JOURNAL ARTICLE

Mosaic ring Y chromosome in two normal healthy men with azoospermia

Veronica Bertini, Domenico Canale, Maria Patrizia Bicocchi, Paolo Simi, Angelo Valetto
Fertility and Sterility 2005, 84 (6): 1744
16359976

OBJECTIVE: To better define by molecular and cytogenetic techniques ring Y chromosomes detected in 2 infertile men.

DESIGN: Case report.

SETTING: Molecular genetics/cytogenetics unit in a university hospital.

PATIENT(S): Two infertile men with azoospermia, presenting a normal male phenotype with complete masculinization.

INTERVENTION(S): Karyotype and genetic counseling.

MAIN OUTCOME MEASURE(S): Metaphases were studied by standard G- and Q-banding; fluorescent in situ hybridization and PCR were performed to analyze specific Y chromosome regions.

RESULT(S): Chromosomal analysis detected a mosaicism with a Y chromosome ring cell line in 92% (patient 1) and 95% (patient 2) of the metaphases, coexisting with a 45,X cell line in the remaining metaphases. In patient 1, PCR analysis showed the presence of AZFa region and a partial deletion of AZFb region; AZFc region was deleted. In patient 2 all three AZF regions were deleted.

CONCLUSION(S): A 45,X/46,X,r(Y) mosaicism can be detected not only in patients with Ullrich-Turner syndrome and in patients with various degrees of genital ambiguity but also in men presenting a normal phenotype. Their azoospermia can be explained by partial or total deletion of AZF regions.

Full Text Links

Find Full Text Links for this Article

Discussion

You are not logged in. Sign Up or Log In to join the discussion.

Related Papers

Remove bar
Read by QxMD icon Read
16359976
×

Save your favorite articles in one place with a free QxMD account.

×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"